Canonical Allele Identifier: CA1633415734

Gene: EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63788219C= , CM000668.2:g.63788219C=	GRCh38
NC_000006.11:g.64498112C= , CM000668.1:g.64498112C=	GRCh37
NC_000006.10:g.64556071C=	NCBI36
NG_023443.1:g.1924007G=
NG_023443.2:g.1924007G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000503581.6:c.7609G= MANE Select	ENSP00000424243.1:p.Ala2537=
ENST00000370616.6:c.7609G=	ENSP00000359650.2:p.Ala2537=
ENST00000370618.7:c.7609G=	ENSP00000359652.4:p.Ala2537=
ENST00000370621.7:c.7609G=	ENSP00000359655.3:p.Ala2537=
ENST00000398580.3:c.923G=
ENST00000486069.1:n.249G=
ENST00000503581.5:c.7609G=	ENSP00000424243.1:p.Ala2537=
NM_001142800.1:c.7609G=	NP_001136272.1:p.Ala2537=
NM_001292009.1:c.7609G=	NP_001278938.1:p.Ala2537=
NM_001142800.2:c.7609G= MANE Select	NP_001136272.1:p.Ala2537=
NM_001292009.2:c.7609G=	NP_001278938.1:p.Ala2537=